A132T (p.Ala132Thr) variant of SHTN1 (Shootin-1)
A132T (p.Ala132Thr) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- ExAC rs761373972
- TOPMed rs761373972
- gnomAD rs761373972
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.04
- CADD 7.69
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available